| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs121909120 |
G>A,T |
Likely-pathogenic, pathogenic |
Missense variant, synonymous variant, coding sequence variant |
|
rs121909121 |
C>T |
Pathogenic-likely-pathogenic, pathogenic |
Missense variant, coding sequence variant |
|
rs121909122 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs121909123 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs139876825 |
C>T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant, upstream transcript variant, genic upstream transcript variant, 5 prime UTR variant |
|
rs370160994 |
T>C |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign |
Coding sequence variant, synonymous variant, genic upstream transcript variant |
|
rs373434281 |
A>G |
Conflicting-interpretations-of-pathogenicity, likely-benign, benign |
Intron variant |
|
rs398123560 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs398123561 |
CTTT>- |
Pathogenic |
Frameshift variant, coding sequence variant, genic upstream transcript variant |
|
rs587784458 |
C>T |
Pathogenic |
Splice donor variant |
|
rs587784459 |
C>A,T |
Pathogenic |
Stop gained, coding sequence variant, missense variant |
|
rs587784460 |
C>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
|
rs587784462 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs587784463 |
G>- |
Pathogenic |
Genic upstream transcript variant, coding sequence variant, frameshift variant |
|
rs587784464 |
G>A |
Pathogenic |
Stop gained, genic upstream transcript variant, coding sequence variant |
|
rs587784465 |
C>A,T |
Pathogenic |
Splice donor variant |
|
rs587784466 |
C>G |
Pathogenic |
Splice acceptor variant |
|
rs587784468 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs587784469 |
C>T |
Pathogenic-likely-pathogenic, likely-pathogenic |
Synonymous variant, coding sequence variant |
|
rs587784470 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs727504174 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs727504175 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs727505396 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs786200992 |
->T |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs796053418 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs796053424 |
->CT |
Pathogenic |
Genic upstream transcript variant, frameshift variant, coding sequence variant |
|
rs796053425 |
TCC>A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs796053427 |
ACACTCTGCCCCTG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs796053428 |
->GGCC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs796053429 |
CT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs797045003 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
|
rs797045072 |
C>A,T |
Pathogenic |
Missense variant, splice donor variant, coding sequence variant |
|
rs797046033 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs797046034 |
T>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs797046035 |
->G |
Pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs797046036 |
->AC |
Pathogenic |
Splice donor variant |
|
rs863223404 |
T>CC |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs863224934 |
T>C |
Likely-pathogenic |
Missense variant, coding sequence variant, splice acceptor variant |
|
rs878853149 |
G>A |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, stop gained |
|
rs886041248 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
|
rs886041578 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
|
rs886041910 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1057518339 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1057518848 |
->ATTG |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057518864 |
C>T |
Pathogenic |
Genic upstream transcript variant, splice acceptor variant |
|
rs1057519592 |
->A |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1057521070 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
|
rs1057524821 |
A>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1064795443 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064796134 |
T>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1064796538 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1064796853 |
G>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1131691653 |
CCGAAGCA>- |
Pathogenic |
Intron variant, splice donor variant, coding sequence variant |
|
rs1131691735 |
G>A |
Pathogenic, pathogenic-likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1135401807 |
AG>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555708227 |
CT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555710069 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555710127 |
AGGAGCTTGGTC>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1555710171 |
GTCTGGGGCTTG>- |
Likely-pathogenic |
Inframe deletion, coding sequence variant |
|
rs1555710416 |
GCCGA>AG |
Likely-pathogenic |
Inframe indel, coding sequence variant |
|
rs1555710523 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555710726 |
G>A |
Pathogenic, likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555710757 |
G>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555710866 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555711245 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1555717982 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555718063 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555718354 |
->GACTACTG |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555718426 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555721921 |
A>C,G |
Pathogenic, likely-pathogenic |
Splice donor variant |
|
rs1555722023 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555763998 |
G>C |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555764170 |
CC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555764460 |
->A |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555764839 |
A>- |
Likely-pathogenic |
Stop gained, coding sequence variant |
|
rs1555775233 |
->GA |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555778204 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555782724 |
C>T |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1555789019 |
ACCCAT>GGGAC |
Pathogenic |
Splice donor variant, coding sequence variant |
|
rs1555789026 |
ATTATACT>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555796785 |
G>C |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
rs1555797231 |
C>T |
Pathogenic |
Stop gained, coding sequence variant |
|
rs1555797248 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555917396 |
C>A |
Likely-pathogenic |
Genic upstream transcript variant, splice donor variant |
|
rs1568303086 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1568303352 |
G>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1568331766 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568471940 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568490874 |
T>C |
Pathogenic |
Intron variant |
|
rs1568509890 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568523662 |
CCCGC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568620706 |
AT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568620774 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1568622225 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1569138023 |
G>- |
Pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1599375711 |
CGC>- |
Likely-pathogenic |
Coding sequence variant, inframe deletion |
|
rs1599377405 |
C>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1599570613 |
C>A |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
rs1600275237 |
CACAACCTTGTAAATACACTAAAACACTTGAATTGTACACCTGAAATGGGCTCATCGTATGTTAAGTGAATTATATCTCAATAAAGCTGATTTTTTAAAAAACAGCAACAATAGTATCTATATCTGAAATTCTAACTCTATATGATAACTATAGAGTCTATAAATTTCATCACTTACCATGAGTGAATGTCTGTTGGCTGAAAGAAGGCCGGTTCCATACCCTGAGCCCAGACCACCCATGGCTCCATTATGAGA |
Likely-pathogenic |
Coding sequence variant, splice donor variant, splice acceptor variant, intron variant |
|
rs1600285757 |
G>C |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1600290109 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600404016 |
->CA |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600404795 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600504872 |
G>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1600578193 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1600861021 |
TGACTCACCCATT>- |
Pathogenic |
Coding sequence variant, splice donor variant, intron variant |
|
rs1600861681 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1600865932 |
A>T |
Pathogenic |
Coding sequence variant, stop gained |
|
rs1600866162 |
T>C |
Pathogenic |
Splice acceptor variant |
|
rs1601258465 |
TAGCCTGGCG>GTCCCTATTGTAGTCGGC |
Pathogenic |
Coding sequence variant, inframe indel, 5 prime UTR variant, stop gained |
|
rs1601260508 |
C>T |
Likely-pathogenic |
Coding sequence variant, synonymous variant, splice acceptor variant |
|
rs1603282307 |
A>- |
Likely-pathogenic |
Coding sequence variant, genic upstream transcript variant, frameshift variant |
|
rs1603624808 |
TT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant, intron variant, genic upstream transcript variant, upstream transcript variant |